1,721,036 research outputs found
Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis
No full textThere is increasing evidence of a clinical, neuropathological and genetic overlap between frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). We conducted a case–control study using a UK dataset to test the hypothesis that polymorphisms in two FTD-related genes (GRN and FT74) are associated with increased susceptibility to ALS. We evaluated the majority of known genetic variability in IFT74 and GRN. The results revealed that the common variations in IFT74 and GRN neither constitute strong ALS risk factors nor modify the age-at-onset. However, the possibility of a modest risk effect remains to be assessed in large datasets
A new MRI rating scale for progressive supranuclear palsy and multiple system atrophy: validity and reliability
No full textDisease severity and progression in progressive supranuclear palsy and multiple system atrophy: validation of the NNIPPS--Parkinson Plus Scale
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Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Phenotypic insights into ADCY5-associated disease
No full textBackground: Adenylyl cyclase 5 (ADCY5) mutations have recently been reported to as the cause ofcausis associated with a number of different heterogenous syndromes:e familial dyskinesia and facial myokymia, paroxysmal chorea and dystonia, autosomal-dominant chorea and dystonia, and benign hereditary chorea. Objective: We provide detailed clinical data on seven patients from six new kindreds with mutations in the ADCY5 gene, in order to expand and define the phenotypic spectrum of ADCY5 mutations. Method: In five of the seven patients, followed over a period of 9 to -32 years, ADCY5 was sequenced by Sanger sequencing. The other two unrelated patients participated in studies for undiagnosed pediatric hyperkinetic movement disorders, and underwent whole exome sequencing.Results: Five Three patients (three from two kindreds and two sporadic) patients, all with the p.R418W ADCY5 mutation, had been diagnosed with dyskinetic cerebral palsy (CP) and presented with motor milestone delay, infantile-onset action-induced generalized choreoathetosis with episodic exacerbations during drowsiness, (CWEDD) and axial hypotonia leading to a previous diagnosis of cerebral palsy. A fifth probandsixth patient with had autosomal-dominant myoclonus-dystonia (MD) caused by a novel p.R418G ADCY5 changemutation presented with a milder phenotype of had autosomal-dominant myoclonus-dystonia (MD) caused by. The sixth subjectseventh patient, carrier of a novel p.R418Q mutation, was affected by sporadic infantile-onset isolated chorea (IOIC). Six out of seven patients had reduction of the episodic movement disorder with clonazepam or clobazam. Most patients had reduction of the episodic movement disorder with clonazepam or clobazam. Conclusion: We further delineate the clinical features of ADCY5 gene mutations and illustrates its wide phenotypic presentation. We describe mild improvement following treatment with clonazepam, clobazem and bilateral pallidal deep brain stimulation. ADCY5 associated dyskinesia may be under-recognized and its diagnosis has important prognostic, genetic and therapeutic implications. We observed three distinct clinical syndromes each caused by a different mutation affecting the same amino acid, and thus, showing a strong genotype-phenotype correlation. In addition, we expand the phenotypic spectrum of ADCY5 mutations to include: 1) infantile-onset CWEDD, 2) MD, and 3) IOIC. A progressive movement disorder masquerading as dyskinetic CP may be the most common phenotype of ADCY5 mutations
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
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